SD
MCID: SLL003
MIFTS: 43

Salla Disease (SD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Salla Disease

Aliases & Descriptions for Salla Disease:

Name: Salla Disease 54 50 24 56 66 29 13
Sialic Acid Storage Disease, Finnish Type 69
Sialuria, Finnish Type 50
Finnish Type Sialuria 66
Sd 66

Characteristics:

Orphanet epidemiological data:

56
salla disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/100000 (Sweden); Age of onset: Infancy; Age of death: normal life expectancy;

HPO:

32
salla disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 604369
Orphanet 56 ORPHA309334
ICD10 via Orphanet 34 E77.8
MedGen 40 C1096903

Summaries for Salla Disease

NIH Rare Diseases : 50 salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards based summary : Salla Disease, also known as sialic acid storage disease, finnish type, is related to intermediate severe salla disease and hemoglobin sd, and has symptoms including ataxia, seizures and athetosis. An important gene associated with Salla Disease is SLC17A5 (Solute Carrier Family 17 Member 5), and among its related pathways/superpathways are Tuberculosis and Phagosome. Affiliated tissues include brain and testes, and related phenotype is Increased shRNA abundance (Z-score > 2).

OMIM : 54 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile... (604369) more...

UniProtKB/Swiss-Prot : 66 Salla disease: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.

Wikipedia : 71 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Related Diseases for Salla Disease

Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 intermediate severe salla disease 12.0
2 hemoglobin sd 12.0
3 shwachman-diamond syndrome 11.7
4 free sialic acid storage disorders 11.3
5 trichohepatoenteric syndrome 1 11.0
6 semantic dementia 11.0
7 sydenham chorea 11.0
8 rheumatic encephalitis 11.0
9 microcephaly 1, primary, autosomal recessive 10.8
10 macrocephaly/autism syndrome 10.8
11 desbuquois dysplasia 1 10.8
12 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
13 sialic acid storage disorder, infantile 10.8
14 sialidosis, type i 10.8
15 multiple system atrophy 10.8
16 sandhoff disease, infantile, juvenile, and adult forms 10.8
17 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.7
18 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.7
19 short stature with nonspecific skeletal abnormalities 10.7
20 microcephaly 5, primary, autosomal recessive 10.7
21 acid-labile subunit, deficiency of 10.7
22 lissencephaly 4 10.7
23 macular dystrophy, vitelliform, 5 10.7
24 desbuquois dysplasia 2 10.7
25 nanophthalmos 4 10.7
26 microcephaly 10, primary, autosomal recessive 10.7
27 macular dystrophy, vitelliform, 4 10.7
28 short stature, idiopathic familial 10.7
29 retinitis 10.0
30 alcoholic hepatitis 9.9
31 neural tube defects 9.9
32 frontonasal dysplasia 2 9.8 LAMP1 LAMP2
33 ocular hypertension 9.8
34 gallbladder cancer 9.8
35 myopia 9.8
36 encephalopathy 9.8
37 cystinosis 9.8
38 sialuria 9.8
39 lysosomal storage disease 9.8
40 pulmonary emphysema 9.8
41 retinoschisis 9.7
42 choroiditis 9.7
43 retinitis pigmentosa 9.7
44 diabetic macular edema 9.7
45 endotheliitis 9.6
46 hydronephrosis 9.6
47 keratoconus 9.6
48 syphilis 9.6
49 obesity 9.6
50 optic neuritis 9.6

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to Salla Disease

Symptoms & Phenotypes for Salla Disease

Symptoms by clinical synopsis from OMIM:

604369

Clinical features from OMIM:

604369

Human phenotypes related to Salla Disease:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 athetosis 32 HP:0002305
4 nystagmus 32 HP:0000639
5 intellectual disability 32 HP:0001249
6 muscular hypotonia 32 HP:0001252
7 spasticity 32 HP:0001257
8 dysarthria 32 HP:0001260
9 global developmental delay 32 HP:0001263
10 delayed speech and language development 32 HP:0000750
11 thickened calvaria 32 HP:0002684
12 abnormality of metabolism/homeostasis 32 HP:0001939
13 growth delay 32 HP:0001510
14 inability to walk 32 HP:0002540
15 exotropia 32 HP:0000577
16 vacuolated lymphocytes 32 HP:0001922

UMLS symptoms related to Salla Disease:


ataxia, athetosis, muscle spasticity, seizures

GenomeRNAi Phenotypes related to Salla Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.09 LAMP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 SLC17A5 LAMP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.09 LAMP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.09 LAMP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.09 SLC17A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.09 LAMP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.09 SLC17A5 LAMP2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.09 SLC17A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.09 SLC17A5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.09 LAMP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.09 LAMP2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 LAMP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.09 LAMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.09 LAMP2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.09 SLC17A5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 LAMP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.09 LAMP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 LAMP2 LAMP1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.09 LAMP2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 SLC17A5 LAMP2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.09 LAMP1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.09 LAMP2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 SLC17A5

Drugs & Therapeutics for Salla Disease

Search Clinical Trials , NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease 29 24 SLC17A5

Anatomical Context for Salla Disease

MalaCards organs/tissues related to Salla Disease:

39
Brain, Testes

Publications for Salla Disease

Articles related to Salla Disease:

(show all 48)
id Title Authors Year
1
A 13-year follow-up of Finnish patients with Salla disease. ( 26171070 )
2015
2
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. ( 24993898 )
2014
3
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. ( 23227378 )
2012
4
Salla disease in Turkish children: severe and conventional type. ( 20196397 )
2009
5
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. ( 16170568 )
2005
6
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. ( 16158439 )
2005
7
Novel form of intermediate salla disease: clinical and neuroimaging features. ( 16417876 )
2005
8
Neurocognitive profiles in Salla disease. ( 15581157 )
2004
9
Salla disease and ISSD--what does the future hold? ( 15171996 )
2004
10
Cerebellar white matter involvement in Salla disease. ( 15179531 )
2004
11
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. ( 15635485 )
2004
12
Two cases of Salla disease in Danish children. ( 14696864 )
2003
13
A case of Salla disease with involvement of the cerebellar white matter. ( 12592494 )
2003
14
Free sialic acid storage (Salla) disease in Sweden. ( 12578289 )
2002
15
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. ( 12121352 )
2002
16
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. ( 11992753 )
2002
17
Multiple neuroendocrine disorder in Salla disease. ( 11669356 )
2001
18
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. ( 10891913 )
2000
19
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. ( 10331697 )
1999
20
Brain involvement in Salla disease. ( 10219409 )
1999
21
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). ( 9935050 )
1999
22
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. ( 9343943 )
1997
23
Salla disease--rare or underdiagnosed? ( 9112963 )
1997
24
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. ( 8825046 )
1996
25
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. ( 7557994 )
1995
26
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. ( 7573051 )
1995
27
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. ( 7885532 )
1994
28
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. ( 1505579 )
1992
29
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. ( 1733832 )
1992
30
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. ( 1959930 )
1991
31
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. ( 2381164 )
1990
32
Neuropathology of Salla disease. ( 3287834 )
1988
33
Pulmonary emphysema in a nonsmoking patient with Salla disease. ( 3565947 )
1987
34
Disorders of lysosomal membrane transport--cystinosis and Salla disease. ( 3326729 )
1987
35
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. ( 3425617 )
1987
36
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. ( 3961501 )
1986
37
Salla disease in one non-Finnish patient. ( 3770005 )
1986
38
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. ( 3944269 )
1986
39
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. ( 3960283 )
1986
40
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. ( 3718508 )
1986
41
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. ( 4032465 )
1985
42
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. ( 4012278 )
1985
43
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. ( 4010893 )
1985
44
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. ( 6694015 )
1984
45
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. ( 6297896 )
1983
46
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. ( 6681560 )
1983
47
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. ( 510308 )
1979
48
Four patients with a new lysosomal storage disorder (Salla disease). ( 723890 )
1978

Variations for Salla Disease

UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

66
id Symbol AA change Variation ID SNP ID
1 SLC17A5 p.Arg39Cys VAR_018684 rs80338794
2 SLC17A5 p.Lys136Glu VAR_018685 rs80338795

ClinVar genetic disease variations for Salla Disease:

6 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC17A5 NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs80338794 GRCh37 Chromosome 6, 74354306: 74354306
2 SLC17A5 SLC17A5, 15-BP DEL, NT802 deletion Pathogenic
3 SLC17A5 NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80338795 GRCh37 Chromosome 6, 74351533: 74351533
4 SLC17A5 NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs) deletion Pathogenic/Likely pathogenic rs386833987 GRCh37 Chromosome 6, 74325141: 74325142
5 SLC17A5 NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs) deletion Likely pathogenic rs386833988 GRCh37 Chromosome 6, 74320243: 74320244
6 SLC17A5 NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu) single nucleotide variant Likely pathogenic rs386833989 GRCh37 Chromosome 6, 74320156: 74320156
7 SLC17A5 NM_012434.4(SLC17A5): c.291G> A (p.Thr97=) single nucleotide variant Pathogenic/Likely pathogenic rs386833990 GRCh37 Chromosome 6, 74354130: 74354130
8 SLC17A5 NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter) single nucleotide variant Likely pathogenic rs386833991 GRCh37 Chromosome 6, 74351630: 74351630
9 SLC17A5 NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs) deletion Likely pathogenic rs386833992 GRCh37 Chromosome 6, 74351432: 74351432
10 SLC17A5 NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter) single nucleotide variant Likely pathogenic rs386833993 GRCh37 Chromosome 6, 74345205: 74345205
11 SLC17A5 NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del) deletion Pathogenic/Likely pathogenic rs386833994 GRCh37 Chromosome 6, 74345108: 74345122
12 SLC17A5 NM_012434.4(SLC17A5): c.95-1G> C single nucleotide variant Likely pathogenic rs386833995 GRCh37 Chromosome 6, 74354327: 74354327
13 SLC17A5 NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu) single nucleotide variant Likely pathogenic rs386833996 GRCh37 Chromosome 6, 74325166: 74325166
14 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh37 Chromosome 6, 74351530: 74351530
15 SLC17A5 NM_012434.4(SLC17A5): c.1350+1G> A single nucleotide variant Likely pathogenic rs1057516951 GRCh37 Chromosome 6, 74310073: 74310073
16 SLC17A5 NM_012434.4(SLC17A5): c.1259+1G> A single nucleotide variant Likely pathogenic rs146095590 GRCh37 Chromosome 6, 74320122: 74320122
17 SLC17A5 NM_012434.4(SLC17A5): c.1127delC (p.Ala376Glufs) deletion Likely pathogenic rs1057517111 GRCh38 Chromosome 6, 73610532: 73610532
18 SLC17A5 NM_012434.4(SLC17A5): c.1121delG (p.Gly374Aspfs) deletion Likely pathogenic rs1057517119 GRCh37 Chromosome 6, 74320261: 74320261
19 SLC17A5 NM_012434.4(SLC17A5): c.1016G> A (p.Trp339Ter) single nucleotide variant Likely pathogenic rs1057516910 GRCh37 Chromosome 6, 74325133: 74325133
20 SLC17A5 NM_012434.4(SLC17A5): c.909G> A (p.Trp303Ter) single nucleotide variant Likely pathogenic rs1057516601 GRCh37 Chromosome 6, 74331596: 74331596
21 SLC17A5 NM_012434.4(SLC17A5): c.905delA (p.Asn302Thrfs) deletion Likely pathogenic rs771156053 GRCh37 Chromosome 6, 74331600: 74331600
22 SLC17A5 NM_012434.4(SLC17A5): c.819+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517028 GRCh38 Chromosome 6, 73635381: 73635381
23 SLC17A5 NM_012434.4(SLC17A5): c.693delC (p.Phe233Leufs) deletion Likely pathogenic rs1057516862 GRCh38 Chromosome 6, 73636628: 73636628
24 SLC17A5 NM_012434.4(SLC17A5): c.423delT (p.Phe141Leufs) deletion Likely pathogenic rs1057516419 GRCh38 Chromosome 6, 73641793: 73641793
25 SLC17A5 NM_012434.4(SLC17A5): c.384T> A (p.Tyr128Ter) single nucleotide variant Likely pathogenic rs1057516257 GRCh38 Chromosome 6, 73641832: 73641832
26 SLC17A5 NM_012434.4(SLC17A5): c.349dupT (p.Tyr117Leufs) duplication Likely pathogenic rs1057516492 GRCh38 Chromosome 6, 73641867: 73641867
27 SLC17A5 NM_012434.4(SLC17A5): c.292-2A> C single nucleotide variant Likely pathogenic rs1057516528 GRCh38 Chromosome 6, 73641926: 73641926
28 SLC17A5 NM_012434.4(SLC17A5): c.215_216delCA (p.Thr72Asnfs) deletion Likely pathogenic rs1057516505 GRCh37 Chromosome 6, 74354205: 74354206
29 SLC17A5 NM_012434.4(SLC17A5): c.215delC (p.Thr72Lysfs) deletion Likely pathogenic rs1057517269 GRCh38 Chromosome 6, 73644483: 73644483
30 SLC17A5 NM_012434.4(SLC17A5): c.204delA (p.Asp69Ilefs) deletion Likely pathogenic rs1057516549 GRCh38 Chromosome 6, 73644494: 73644494

Expression for Salla Disease

Search GEO for disease gene expression data for Salla Disease.

Pathways for Salla Disease

Pathways related to Salla Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.57 LAMP1 LAMP2
2 11.44 LAMP1 LAMP2
3 11.26 LAMP1 LAMP2
4 10.98 LAMP1 LAMP2
5 10.89 LAMP1 LAMP2 SLC17A5

GO Terms for Salla Disease

Cellular components related to Salla Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.5 LAMP1 LAMP2 SLC17A5
2 endosome membrane GO:0010008 9.43 LAMP1 LAMP2
3 late endosome GO:0005770 9.4 LAMP1 LAMP2
4 ficolin-1-rich granule membrane GO:0101003 9.37 LAMP1 LAMP2
5 lysosome GO:0005764 9.33 LAMP1 LAMP2 SLC17A5
6 azurophil granule membrane GO:0035577 9.26 LAMP1 LAMP2
7 lysosomal membrane GO:0005765 9.13 LAMP1 LAMP2 SLC17A5
8 autolysosome GO:0044754 8.62 LAMP1 LAMP2

Biological processes related to Salla Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 8.62 LAMP1 LAMP2

Molecular functions related to Salla Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.96 LAMP1 LAMP2
2 protein domain specific binding GO:0019904 8.62 LAMP1 LAMP2

Sources for Salla Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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43 MESH via Orphanet
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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